Mutagenetix > Incidental Mutation

Incidental Mutation 'R7783:Abl2'

599350

Institutional Source

Beutler Lab

Gene Symbol

Abl2

Ensembl Gene

ENSMUSG00000026596

Gene Name

ABL proto-oncogene 2, non-receptor tyrosine kinase

Synonyms

Abll, Arg

MMRRC Submission

045839-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.565) question?

Stock #

R7783 (G1)

Quality Score

111.008

Status

Not validated

Chromosome

Chromosomal Location

156386356-156477138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156386641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 8 (V8A)

Ref Sequence

ENSEMBL: ENSMUSP00000027888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027888] [ENSMUST00000166172] [ENSMUST00000173929]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027888
AA Change: V8A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027888
Gene: ENSMUSG00000026596
AA Change: V8A

Domain	Start	End	E-Value	Type
low complexity region	20	40	N/A	INTRINSIC
SH3	110	166	9.83e-16	SMART
SH2	171	254	1.34e-33	SMART
TyrKc	288	539	2.53e-148	SMART
low complexity region	561	577	N/A	INTRINSIC
low complexity region	598	609	N/A	INTRINSIC
low complexity region	734	752	N/A	INTRINSIC
low complexity region	877	891	N/A	INTRINSIC
low complexity region	974	991	N/A	INTRINSIC
low complexity region	1036	1049	N/A	INTRINSIC
FABD	1061	1182	5.24e-65	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166172
AA Change: V8A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126181
Gene: ENSMUSG00000026596
AA Change: V8A

Domain	Start	End	E-Value	Type
low complexity region	20	40	N/A	INTRINSIC
SH3	110	166	9.83e-16	SMART
SH2	171	254	1.34e-33	SMART
TyrKc	288	539	2.53e-148	SMART
low complexity region	561	577	N/A	INTRINSIC
low complexity region	598	609	N/A	INTRINSIC
low complexity region	773	787	N/A	INTRINSIC
low complexity region	870	887	N/A	INTRINSIC
low complexity region	932	945	N/A	INTRINSIC
FABD	957	1078	5.24e-65	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000173929
AA Change: V8A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133381
Gene: ENSMUSG00000026596
AA Change: V8A

Domain	Start	End	E-Value	Type
low complexity region	20	40	N/A	INTRINSIC
SH3	89	139	4.35e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display multiple behavioral abnormalities indicating neuronal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	T	5: 124,216,875 (GRCm39)	Y447*	probably null	Het
Adam33	C	T	2: 130,900,257 (GRCm39)	R103K	unknown	Het
Adamts13	G	T	2: 26,880,597 (GRCm39)	A727S	not run	Het
Ajm1	A	T	2: 25,467,820 (GRCm39)	L697Q	probably damaging	Het
Alpk2	A	T	18: 65,439,325 (GRCm39)	C689*	probably null	Het
Amt	C	T	9: 108,174,414 (GRCm39)	Q60*	probably null	Het
Ankrd12	A	G	17: 66,334,245 (GRCm39)		probably null	Het
Ankrd28	A	T	14: 31,428,770 (GRCm39)	N920K	probably damaging	Het
Ankrd36	T	C	11: 5,585,359 (GRCm39)	L390P	probably damaging	Het
Arvcf	T	G	16: 18,207,063 (GRCm39)	H7Q	probably benign	Het
Asns	A	G	6: 7,677,978 (GRCm39)	S367P	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
C7	T	A	15: 5,037,192 (GRCm39)	H562L	probably benign	Het
Ccdc77	T	C	6: 120,327,334 (GRCm39)	D37G	probably damaging	Het
Cdc14a	C	T	3: 116,198,236 (GRCm39)	A58T	probably damaging	Het
Cdc42bpb	C	T	12: 111,302,459 (GRCm39)		probably null	Het
Cilk1	G	T	9: 78,042,927 (GRCm39)	V51F	probably damaging	Het
Corin	A	T	5: 72,458,967 (GRCm39)	F1068L	probably benign	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Ercc3	T	A	18: 32,381,296 (GRCm39)	S371T	probably damaging	Het
Fam193a	A	C	5: 34,588,524 (GRCm39)	K358Q	probably damaging	Het
Fem1a	G	A	17: 56,564,522 (GRCm39)	C205Y	probably benign	Het
Fh1	G	A	1: 175,439,744 (GRCm39)	T233M	probably damaging	Het
Ftsj3	CCTTCTTCTTCTTCTTCT	CCTTCTTCTTCTTCT	11: 106,143,377 (GRCm39)		probably benign	Het
Gabra6	T	C	11: 42,207,289 (GRCm39)	N265S	probably damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Grm6	T	A	11: 50,753,909 (GRCm39)	C738S	probably damaging	Het
Gtsf1	C	T	15: 103,336,996 (GRCm39)		probably benign	Het
Hcrtr2	T	A	9: 76,140,196 (GRCm39)	Y364F	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,336 (GRCm39)	I374V	probably benign	Het
Il31ra	A	T	13: 112,677,785 (GRCm39)	F250L	probably benign	Het
Iqgap1	A	G	7: 80,458,807 (GRCm39)	V37A	probably benign	Het
Izumo3	A	T	4: 92,033,260 (GRCm39)	I182K	probably damaging	Het
Kidins220	G	A	12: 25,038,555 (GRCm39)	A36T	probably damaging	Het
Lrrtm1	G	T	6: 77,221,236 (GRCm39)	R231L	probably damaging	Het
Mical2	A	T	7: 112,012,183 (GRCm39)	S678C	probably damaging	Het
Mme	T	G	3: 63,272,288 (GRCm39)	F629C	probably damaging	Het
Muc5b	T	A	7: 141,411,078 (GRCm39)	H1341Q	unknown	Het
Or13a28	A	G	7: 140,217,637 (GRCm39)	T8A	possibly damaging	Het
Or13p5	T	A	4: 118,592,099 (GRCm39)	D124E	probably damaging	Het
Or2y1e	A	G	11: 49,219,029 (GRCm39)	S264G	probably benign	Het
Or5e1	A	T	7: 108,354,776 (GRCm39)	T238S	probably damaging	Het
Or5p70	A	G	7: 107,995,296 (GRCm39)	H323R	probably benign	Het
Parm1	A	T	5: 91,741,724 (GRCm39)	M31L	probably benign	Het
Pcdhb18	G	A	18: 37,622,874 (GRCm39)	C68Y	probably benign	Het
Pkn3	A	T	2: 29,969,634 (GRCm39)	E35V	probably damaging	Het
Pla2g4a	A	T	1: 149,748,495 (GRCm39)	Y238N	probably damaging	Het
Pld6	T	C	11: 59,678,097 (GRCm39)	D122G	probably damaging	Het
Prag1	G	T	8: 36,570,409 (GRCm39)	A331S	possibly damaging	Het
Rbm44	A	G	1: 91,096,551 (GRCm39)	D970G	probably benign	Het
Rps6kc1	A	G	1: 190,505,851 (GRCm39)	V1037A	probably benign	Het
Slc12a7	T	C	13: 73,953,588 (GRCm39)	V766A	probably benign	Het
Spata18	A	G	5: 73,825,953 (GRCm39)	T87A		Het
St3gal3	T	C	4: 117,797,320 (GRCm39)	M308V	probably benign	Het
Stx19	T	C	16: 62,642,649 (GRCm39)	L155S	probably benign	Het
Tespa1	A	T	10: 130,192,752 (GRCm39)	T145S	probably damaging	Het
Timm21	A	C	18: 84,965,846 (GRCm39)	F221V	possibly damaging	Het
Tlr1	A	T	5: 65,082,264 (GRCm39)	F771Y	probably damaging	Het
Tmem150a	C	A	6: 72,335,606 (GRCm39)	L125I	unknown	Het
Try4	T	C	6: 41,279,229 (GRCm39)	L4P	possibly damaging	Het
Txlna	C	T	4: 129,525,950 (GRCm39)	R299H	probably damaging	Het
Txndc16	A	T	14: 45,382,417 (GRCm39)	N609K	probably benign	Het
Upf1	T	C	8: 70,805,508 (GRCm39)	T46A	probably benign	Het
Zfp266	T	C	9: 20,411,626 (GRCm39)	N184D	probably benign	Het
Zfp407	A	G	18: 84,228,047 (GRCm39)	V1854A	possibly damaging	Het
Zfp626	T	A	7: 27,517,795 (GRCm39)	C259S	possibly damaging	Het

Other mutations in Abl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Abl2	APN	1	156,462,754 (GRCm39)	missense	probably damaging	1.00
IGL01679:Abl2	APN	1	156,470,035 (GRCm39)	missense	probably benign	0.01
IGL02289:Abl2	APN	1	156,457,424 (GRCm39)	missense	probably damaging	1.00
PIT4495001:Abl2	UTSW	1	156,460,755 (GRCm39)	missense	probably damaging	1.00
R0907:Abl2	UTSW	1	156,457,429 (GRCm39)	missense	probably damaging	1.00
R1232:Abl2	UTSW	1	156,469,300 (GRCm39)	missense	probably damaging	1.00
R2069:Abl2	UTSW	1	156,448,397 (GRCm39)	splice site	probably null
R4224:Abl2	UTSW	1	156,461,417 (GRCm39)	missense	probably damaging	0.98
R4305:Abl2	UTSW	1	156,469,133 (GRCm39)	missense	probably damaging	0.99
R4411:Abl2	UTSW	1	156,457,652 (GRCm39)	missense	possibly damaging	0.86
R4490:Abl2	UTSW	1	156,461,349 (GRCm39)	missense	probably damaging	1.00
R5132:Abl2	UTSW	1	156,469,402 (GRCm39)	nonsense	probably null
R5383:Abl2	UTSW	1	156,469,802 (GRCm39)	missense	possibly damaging	0.89
R5428:Abl2	UTSW	1	156,469,681 (GRCm39)	missense	probably damaging	1.00
R5436:Abl2	UTSW	1	156,457,450 (GRCm39)	missense	probably damaging	1.00
R5760:Abl2	UTSW	1	156,469,427 (GRCm39)	missense	probably benign	0.06
R6051:Abl2	UTSW	1	156,469,655 (GRCm39)	missense	probably damaging	1.00
R6955:Abl2	UTSW	1	156,450,219 (GRCm39)	missense	probably damaging	1.00
R7002:Abl2	UTSW	1	156,386,703 (GRCm39)	missense	probably damaging	1.00
R7038:Abl2	UTSW	1	156,468,979 (GRCm39)	missense	possibly damaging	0.95
R7172:Abl2	UTSW	1	156,450,157 (GRCm39)	missense	probably damaging	1.00
R7268:Abl2	UTSW	1	156,461,509 (GRCm39)	critical splice donor site	probably null
R7282:Abl2	UTSW	1	156,457,630 (GRCm39)	missense	probably damaging	1.00
R7303:Abl2	UTSW	1	156,468,820 (GRCm39)	missense	probably benign	0.00
R7372:Abl2	UTSW	1	156,450,189 (GRCm39)	missense	probably damaging	1.00
R7375:Abl2	UTSW	1	156,450,184 (GRCm39)	missense	probably damaging	1.00
R7443:Abl2	UTSW	1	156,452,951 (GRCm39)	missense	probably damaging	1.00
R7468:Abl2	UTSW	1	156,450,104 (GRCm39)	missense	possibly damaging	0.68
R7614:Abl2	UTSW	1	156,464,429 (GRCm39)	missense	possibly damaging	0.71
R7644:Abl2	UTSW	1	156,443,563 (GRCm39)	missense	probably benign	0.08
R8158:Abl2	UTSW	1	156,469,639 (GRCm39)	missense	probably benign	0.00
R8675:Abl2	UTSW	1	156,452,909 (GRCm39)	missense	probably damaging	1.00
R8930:Abl2	UTSW	1	156,461,402 (GRCm39)	missense	probably damaging	0.98
R8932:Abl2	UTSW	1	156,461,402 (GRCm39)	missense	probably damaging	0.98
R9217:Abl2	UTSW	1	156,452,902 (GRCm39)	missense	probably damaging	1.00
R9262:Abl2	UTSW	1	156,469,820 (GRCm39)	missense	possibly damaging	0.93
R9290:Abl2	UTSW	1	156,457,538 (GRCm39)	missense	probably damaging	1.00
R9571:Abl2	UTSW	1	156,469,084 (GRCm39)	missense	probably damaging	0.99
X0067:Abl2	UTSW	1	156,459,003 (GRCm39)	splice site	probably null
Z1177:Abl2	UTSW	1	156,469,123 (GRCm39)	frame shift	probably null
Z1177:Abl2	UTSW	1	156,468,676 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGAGAGTCTGTGAGTCGC -3'
(R):5'- ATAGCAGGACAGTCAAGCCTG -3'

Sequencing Primer
(F):5'- TGAGTCGCTGGGAGGCAG -3'
(R):5'- TCAAGCCTGGGTCCCTAAGAC -3'

Posted On

2019-11-26